Division of General Pediatrics, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Division of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Horm Res Paediatr. 2021;94(9-10):374-389. doi: 10.1159/000520299. Epub 2021 Oct 19.
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare condition of renal phosphate wasting due to SLC34A3 mutations [Am J Hum Genet. 2006;78(2):193-201]. Patients exhibit low serum phosphorus, high 1,25-dihydroxyvitamin D, and inappropriately high urine phosphate and calcium. However, symptoms vary, and little is known about specific phenotype-genotype correlations.
We report 3 HHRH cases in unrelated 12-year-old, 9-year-old, and 14-year-old patients and perform a systematic literature review.
All 3 patients exhibited labs typical of HHRH. Yet, their presentations differed, and 2 novel SLC34A3 variants were identified. As found in the literature review, bone symptoms are most common (50%), followed by renal symptoms (17%), combined bone and renal symptoms (18%), and asymptomatic (9%).
These 3 cases highlight the variability of presenting signs and symptoms among individuals with HHRH. An accurate diagnosis is critical as treatment differs from other disorders of phosphate wasting, urinary stones, and mineralization defects.
遗传性低血磷性佝偻病伴高钙尿症（HHRH）是一种由于 SLC34A3 基因突变导致的肾脏磷酸盐丢失的罕见疾病[Am J Hum Genet. 2006;78(2):193-201]。患者表现为血清磷水平降低、1,25-二羟维生素 D 水平升高以及尿磷和钙水平升高但不成比例。然而，症状存在差异，并且对于特定的表型-基因型相关性知之甚少。
我们报告了 3 例无亲缘关系的 12 岁、9 岁和 14 岁患者的 HHRH 病例，并进行了系统的文献回顾。
所有 3 例患者的实验室检查均符合 HHRH 的典型特征。然而，他们的表现存在差异，并且发现了 2 种新的 SLC34A3 变异体。正如文献综述中所发现的，骨骼症状最为常见（50%），其次是肾脏症状（17%）、骨骼和肾脏症状并存（18%）和无症状（9%）。
这 3 个病例突出了 HHRH 患者表现出的不同的症状和体征。准确的诊断至关重要，因为治疗方法不同于其他磷酸盐丢失、尿路结石和矿物质化缺陷疾病。
